E-LIB Suche - Ergebnisse für: Boy, Raquel

1

Low‐pass whole genome sequencing as a cost‐effective altern..:

Mazzonetto, Patricia C. ; Villela, Darine ; Krepischi, Ana C. V....
American Journal of Medical Genetics Part A. , 2024

2

A novel Xp11.22 duplication involving HUWE1 in a male with ..:

Santos-Rebouças, Cíntia B. ; Boy, Raquel ; Fernandes, Gabriela N.S....
European Journal of Medical Genetics. 66 (2023) 4 - p. 104716 , 2023

Link: https://doi.org/10.1016/..

3

Molecular and clinical insights into complex genomic rearra..:

Abdala, Bianca Barbosa ; Gonçalves, Andressa Pereira ; dos Santos, Jussara Mendonça...
European Journal of Medical Genetics. 64 (2021) 12 - p. 104367 , 2021

Link: https://doi.org/10.1016/..

4

Skewed X-Chromosome Inactivation and Compensatory Upregulat..:

Santos-Rebouças, Cíntia B. ; Boy, Raquel ; Vianna, Evelyn Q....
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

5

Evaluation of plasma biomarkers of inflammation in patients..:

Scaini, Giselli ; Tonon, Tássia ; Moura de Souza, Carolina F....
Journal of Inherited Metabolic Disease. 41 (2018) 4 - p. 631-640 , 2018

Link: https://doi.org/10.1007/..

6

Biotinidase deficiency: Genotype-biochemical phenotype asso..:

Borsatto, Taciane ; Sperb-Ludwig, Fernanda ; Lima, Samyra E....
PLOS ONE. 12 (2017) 5 - p. e0177503 , 2017

Link: https://doi.org/10.1371/..

7

Correction: Biotinidase deficiency: Genotype-biochemical ph..:

Borsatto, Taciane ; Sperb-Ludwig, Fernanda ; Lima, Samyra E....
PLOS ONE. 12 (2017) 6 - p. e0180463 , 2017

Link: https://doi.org/10.1371/..

8

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotra..:

Ludwig, Nataniel Floriano ; Velho, Renata Voltolini ; Sperb-Ludwig, Fernanda...
The International Journal of Biochemistry & Cell Biology. 92 (2017) - p. 90-94 , 2017

Link: https://doi.org/10.1016/..

9

Medical Costs Related to Enzyme Replacement Therapy for Muc..:

Bitencourt, Fernanda Hendges de ; Vieira, Taiane Alves ; Steiner, Carlos Eduardo...
Value in Health Regional Issues. 8 (2015) - p. 99-106 , 2015

Link: https://doi.org/10.1016/..

10

MPS Brazil Network: An efficient tool to identify MPS patie..:

Giugliani, Roberto ; Acosta, Angelina ; Toralles, Maria Betânia...
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S43-S44 , 2013

Link: https://doi.org/10.1016/..

11

Differential diagnosis of Smith–Magenis syndrome: 1p36 dele..:

Vieira, Gustavo H. ; Rodriguez, Jayson D. ; Boy, Raquel...
American Journal of Medical Genetics Part A. 155 (2011) 5 - p. 988-992 , 2011

Link: https://doi.org/10.1002/..

12

Ethical issues related to the access to orphan drugs in Bra..:

Boy, Raquel ; Schwartz, Ida V D ; Krug, Bárbara C...
Journal of Medical Ethics. 37 (2011) 4 - p. 233-239 , 2011

Link: https://doi.org/10.1136/..

13

Ethical issues related to the access to orphan drugs in Bra..:

Boy, Raquel ; Schwartz, Ida V D ; Krug, Bárbara C...
Journal of Medical Ethics. 37 (2011) 4 - p. 233-239 , 2011

Link: https://www.jstor.org/st..

14

Treating Niemann-pick type C in Brazil: follow-up of 28 pat..:

Lourenco, Charles ; Van der Linden, Vanessa ; Santos, Mara...
Molecular Genetics and Metabolism. 102 (2011) 2 - p. S26-S27 , 2011

Link: https://doi.org/10.1016/..

15

Mucopolysaccharidoses in Brazil: What happens from birth to..:

Vieira, Taiane ; Schwartz, Ida ; Muñoz, Verónica...
American Journal of Medical Genetics Part A. 146A (2008) 13 - p. 1741-1747 , 2008

Link: https://doi.org/10.1002/..